Incidental Mutation 'R5471:Padi2'
| ID |
433800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi2
|
| Ensembl Gene |
ENSMUSG00000028927 |
| Gene Name |
peptidyl arginine deiminase, type II |
| Synonyms |
Pdi2, Pdi, PAD type II |
| MMRRC Submission |
043032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R5471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140633655-140679897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140660519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 333
(K333R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030765]
|
| AlphaFold |
Q08642 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030765
AA Change: K333R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: K333R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
9 |
122 |
1.7e-36 |
PFAM |
|
Pfam:PAD_M
|
124 |
282 |
4e-71 |
PFAM |
|
Pfam:PAD
|
292 |
670 |
3.8e-174 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148160
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
| Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
| Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
| Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
| Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
| Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
| Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
| Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
| Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
| Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
| Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
| Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
| Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
| Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
| Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
| Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
| Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
| Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
probably benign |
Het |
|
| Other mutations in Padi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Padi2
|
APN |
4 |
140,644,948 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01374:Padi2
|
APN |
4 |
140,660,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Padi2
|
APN |
4 |
140,659,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Padi2
|
APN |
4 |
140,654,468 (GRCm39) |
nonsense |
probably null |
|
|
IGL02593:Padi2
|
APN |
4 |
140,677,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Padi2
|
APN |
4 |
140,677,191 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03341:Padi2
|
APN |
4 |
140,654,424 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0116:Padi2
|
UTSW |
4 |
140,653,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2045:Padi2
|
UTSW |
4 |
140,665,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Padi2
|
UTSW |
4 |
140,660,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3022:Padi2
|
UTSW |
4 |
140,665,299 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3079:Padi2
|
UTSW |
4 |
140,677,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3780:Padi2
|
UTSW |
4 |
140,645,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4250:Padi2
|
UTSW |
4 |
140,633,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4276:Padi2
|
UTSW |
4 |
140,663,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4647:Padi2
|
UTSW |
4 |
140,671,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Padi2
|
UTSW |
4 |
140,659,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5452:Padi2
|
UTSW |
4 |
140,659,382 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5489:Padi2
|
UTSW |
4 |
140,671,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5519:Padi2
|
UTSW |
4 |
140,676,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Padi2
|
UTSW |
4 |
140,676,542 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5793:Padi2
|
UTSW |
4 |
140,660,501 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5913:Padi2
|
UTSW |
4 |
140,644,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5929:Padi2
|
UTSW |
4 |
140,671,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5933:Padi2
|
UTSW |
4 |
140,644,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6478:Padi2
|
UTSW |
4 |
140,644,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6809:Padi2
|
UTSW |
4 |
140,674,077 (GRCm39) |
splice site |
probably null |
|
|
R7075:Padi2
|
UTSW |
4 |
140,660,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7313:Padi2
|
UTSW |
4 |
140,660,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7380:Padi2
|
UTSW |
4 |
140,644,997 (GRCm39) |
nonsense |
probably null |
|
|
R7391:Padi2
|
UTSW |
4 |
140,665,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7574:Padi2
|
UTSW |
4 |
140,676,648 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7776:Padi2
|
UTSW |
4 |
140,651,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7791:Padi2
|
UTSW |
4 |
140,644,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Padi2
|
UTSW |
4 |
140,676,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7985:Padi2
|
UTSW |
4 |
140,659,403 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8154:Padi2
|
UTSW |
4 |
140,651,620 (GRCm39) |
splice site |
probably null |
|
|
R8481:Padi2
|
UTSW |
4 |
140,660,564 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8524:Padi2
|
UTSW |
4 |
140,677,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8732:Padi2
|
UTSW |
4 |
140,660,590 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9010:Padi2
|
UTSW |
4 |
140,663,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9653:Padi2
|
UTSW |
4 |
140,662,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Padi2
|
UTSW |
4 |
140,677,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Padi2
|
UTSW |
4 |
140,651,646 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCCTGGATTATGACCC -3'
(R):5'- GCTCTTGAGCAGACAGAACG -3'
Sequencing Primer
(F):5'- ACTTAGCGGCTATATGACCCG -3'
(R):5'- TCTTGAGCAGACAGAACGATCCAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation